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Genetic counseling: Cleft Palate - Pierre Robin Sequence-1
Cleft Palate - Pierre Robin Sequence Contracting *Introduction *Do you have any concerns or questions you would like us to address? *Address any immediate concerns *Discuss reasons for being followed by genetics *Discuss how the genetics visit will include **Asking some standard questions about his health **Reviewing the family history **Tricia will discuss feeding issues and do a physical exam **Reviewing what we believe to be the reason for the problems he's experienced **We want to help make sure that you have all the resources and support possible Interim History Family History Psychosocial Assessment Cleft Palate *Prevalence 1:2000 live births *More likely to be associated with a syndrome than cleft lip with or without cleft palate *At Super Duper Medical Center craniofacial team about 55% of children seen with cleft palate have underlying syndrome Etiology *Can be part of a sequence or syndrome *Sequence - anomaly or pattern of anomalies that arise from a single known or presumed anomaly or mechanical factor (usually known sequence of events with one thing that triggered it) *Syndrome - often due to an underlying genetic explanation or a common suspected cause for anomalies that are often associated with each other (often the characteristics are variable and often have multiple primary defects) Pierre Robin Sequence *Common cause of cleft palate (horseshoe shaped) *Associated with an underlying syndrome in over 50% of cases *Can occur in isolation *Not a diagnosis, but more of a description of the pathogenesis of cleft palate *Small jaw (micrognathia) due to interference of normal development of jaw at 9 wks *Forces tongue to remain high and tongue gets in the way and keeps the palate or roof of the mouth from closing off completely Characteristics in Pierre Robin *Often born with tongues positioned posteriorly *Can cause blockage of pharynx and airway (glossoptosis) *Affects feeding and breathing Medical Management *Place in prone position so gravity allows tongue to fall forward *Sometimes require nasopharyngeal airway (sometimes needed until 3-4 mths old) *Some require tracheostomy (tube directly in trachea to bypass upper airway obstruction *Usually in place until palate repair (about 14 mths ?) *Prevents most vocalizations which can exacerbate speech issues in future *Feeding difficulty occurs in most cases - difficulty coordinating breathing, sucking, swallowing *May require nasogastric tube for feeding or a gastrostomy tube (g tube) **FOR SYNDROMES ASSOCIATED WITH PIERRE ROBIN ALSO SEE CHARTS ATTACHED Stickler Syndrome (possible differential) *Most common identifiable cause cleft palate *AD disorder variable expressivity *Heterogeneous *At least 4 genes can cause *Diagnosis made clinically Classic Phenotype *Pierre Robin Sequence *Cleft palate *Early onset osteoarthritis *Myopia -- Can be severe most mod to high *High risk for retinal detachments (follow close) *Sensorineural hearing loss common (follow with serial audiograms) *Facial Features **Micrognathia in infancy **Flat facial profile **Epicanthal folds **Midface hypoplasia *Development usually typical *No increased risk for LD *Problems related to cleft, hearing loss, tracheostomy VCF (probably not as likely of a differential) *1 in 4000 live births *deletion 22q11 in 90% of patients diagnosed *most new deletions but 10-20% have affected parent *highly variable characteristics **most common --VPI **second most common - cleft palate **associated with Pierre Robin Sequence **congenital heart defects most commonly conotruncal *facial characteristics **microcephaly **narrow palpebral fissures **wide nasal root **bulbous nasal tip **thin upper lip **long face **micrognathia *many possible medical problems *developmental disabilities Recurrance Risks *Vary depending on the diagnosis *Pierre Robin Sequence 1-5% recurrence (ref #3) *What do you and Dr. Saal quote? *Stickler and VCF if new mutation than small risk probably 1%? *If parent affected than 50% recurrence Support Group and Patient Info. *See attached sheet *http://www.pierrerobin.org/index.html (good patient resource offers support e-mail network and information that is easy to understand and seemed mostly accurate) *http://www.widesmiles.org/cleftlinks/WS-901.html ( patient literature and correspondence) References *Kummer, A.W. Cleft Palate and Craniofacial Anomalies Effects of Speech and Resonance. 2001. Thomson Learning Inc. *http://www.pierrerobin.org/index.html (good patient resource offers support e-mail network and information that is easy to understand and seemed mostly accurate) *http://www.widesmiles.org/cleftlinks/WS-901.html ( patient literature and correspondence) Notes The information in this outline was last updated in 2002. Material obtained under GFDL Licence from http://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling